Mutagenetix > Incidental Mutation

Incidental Mutation 'R9335:Aldh1l2'

707089

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9335 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83506646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 546 (M546I)

Ref Sequence

ENSEMBL: ENSMUSP00000020497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020497] [ENSMUST00000146640]

AlphaFold

Q8K009

Predicted Effect

probably damaging
Transcript: ENSMUST00000020497
AA Change: M546I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: M546I

Domain	Start	End	E-Value	Type
Pfam:Formyl_trans_N	23	202	5e-46	PFAM
Pfam:Formyl_trans_C	226	330	1.3e-16	PFAM
Pfam:PP-binding	346	412	9.6e-7	PFAM
Pfam:Aldedh	451	919	3.4e-174	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146640
AA Change: M433I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: M433I

Domain	Start	End	E-Value	Type
Pfam:Formyl_trans_N	1	89	2.8e-30	PFAM
Pfam:Formyl_trans_C	113	217	1.1e-16	PFAM
Pfam:PP-binding	233	299	1.5e-8	PFAM
Pfam:Aldedh	338	806	8.5e-175	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	T	16: 91,055,942	T102K	probably damaging	Het
Afm	A	T	5: 90,550,227	D496V	probably damaging	Het
Apol7c	G	T	15: 77,525,689	N352K	probably benign	Het
Arfgef1	A	T	1: 10,158,011	D1319E	probably damaging	Het
Atl2	A	G	17: 79,852,778	I460T	probably benign	Het
Brms1l	C	A	12: 55,841,646	T73K	possibly damaging	Het
C1rl	A	T	6: 124,505,382	H154L	probably benign	Het
Cacna2d4	T	A	6: 119,302,053	L709Q	probably damaging	Het
Cd101	A	T	3: 101,008,115	V716D	probably benign	Het
Cd177	A	G	7: 24,744,286	S796P	probably benign	Het
D430041D05Rik	A	T	2: 104,248,329	M530K	probably damaging	Het
Dcbld2	A	T	16: 58,451,778	Q399L	probably benign	Het
Dennd4b	T	C	3: 90,268,304	Y138H	probably damaging	Het
Dmxl1	A	G	18: 49,859,120	N311S	probably damaging	Het
Dnaic2	A	G	11: 114,734,663	I107V	probably benign	Het
Dync2h1	A	C	9: 7,112,149	V2480G	possibly damaging	Het
Ect2l	T	A	10: 18,201,284	T24S	probably null	Het
Egfr	C	A	11: 16,870,991	T302K	probably damaging	Het
Eid1	T	G	2: 125,673,658	I156S	possibly damaging	Het
Elmod1	A	T	9: 53,935,832	W21R	probably benign	Het
Enah	G	A	1: 181,921,885	P463L	probably damaging	Het
Epha7	A	G	4: 28,966,529	Y602C	probably benign	Het
Ermap	T	A	4: 119,178,348	Y481F	probably damaging	Het
Fam114a2	G	T	11: 57,506,922	T231N	possibly damaging	Het
Gdap1	A	G	1: 17,161,165	T245A	probably benign	Het
Glmp	T	A	3: 88,328,256	V368D	probably damaging	Het
Gm10203	C	T	6: 149,130,317	A40V	unknown	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 142,165,420		probably benign	Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Hao2	C	A	3: 98,883,694	V55L	possibly damaging	Het
Hemgn	A	T	4: 46,394,647	S488T	probably benign	Het
Ighv12-3	C	T	12: 114,366,692	G61E	probably damaging	Het
Itga2b	T	C	11: 102,455,652	E986G	probably damaging	Het
Laptm5	T	G	4: 130,929,528	S167A		Het
Lmtk3	A	T	7: 45,792,741	Y377F	probably damaging	Het
Lrp2	A	G	2: 69,428,639	I4569T	probably benign	Het
Magi2	A	G	5: 20,661,265	N176D		Het
Mcf2l	C	A	8: 13,000,812	H356N	possibly damaging	Het
Mettl4	T	A	17: 94,735,508	Y300F	probably damaging	Het
Naaladl2	T	G	3: 24,413,368	K307N	possibly damaging	Het
Olfr169	G	A	16: 19,566,763	T40I	probably benign	Het
Olfr43	T	A	11: 74,207,006	D70V	probably damaging	Het
Olfr610	C	T	7: 103,506,520	R142H	probably benign	Het
Olfr765	C	T	10: 129,046,745	G106E	probably damaging	Het
Phip	T	A	9: 82,932,926	M248L	probably benign	Het
Picalm	A	G	7: 90,176,283	T300A	probably benign	Het
Ppa1	T	G	10: 61,648,783	V19G	possibly damaging	Het
Ppp4r3a	T	C	12: 101,040,754	Y793C	probably damaging	Het
Prlr	A	T	15: 10,325,271	I177F	probably benign	Het
Prodh	C	A	16: 18,076,296	G457V	probably damaging	Het
Prrt3	T	C	6: 113,498,097	K55E	probably benign	Het
Prx	G	T	7: 27,518,071	V805L	probably damaging	Het
Ptk6	T	G	2: 181,202,353	D51A	probably damaging	Het
Rec114	T	A	9: 58,657,758	Q205L	probably null	Het
Rfwd3	T	G	8: 111,279,935	K510Q	possibly damaging	Het
Sdhb	C	T	4: 140,972,939	R117C	probably benign	Het
Serinc2	T	G	4: 130,264,427	T21P	probably benign	Het
Serpinb3a	A	C	1: 107,047,156	F216V	probably damaging	Het
Sertm1	T	C	3: 54,899,508	D32G	probably damaging	Het
Setx	A	G	2: 29,145,951	D816G	probably benign	Het
Sfxn4	T	A	19: 60,851,056	N188I	probably damaging	Het
Slc26a4	T	C	12: 31,525,554	D711G	probably damaging	Het
Sp9	T	C	2: 73,274,277	F392L	probably damaging	Het
Ssbp1	T	C	6: 40,478,021	L138P	probably damaging	Het
Sv2a	G	A	3: 96,185,272	G96E	probably damaging	Het
Tbc1d9	G	T	8: 83,210,531	G81C	possibly damaging	Het
Tmem67	G	A	4: 12,040,640	Q968*	probably null	Het
Tnni2	T	C	7: 142,444,266	S169P	probably damaging	Het
Tpk1	T	C	6: 43,469,150		probably null	Het
Unc13b	T	A	4: 43,216,123	Y141N	possibly damaging	Het
Unc13b	A	T	4: 43,255,551	E1057D	probably damaging	Het
Usf3	G	T	16: 44,221,573	G2139C	probably damaging	Het
Vmn1r36	A	T	6: 66,716,446	Y148*	probably null	Het
Vmn2r42	A	C	7: 8,194,759	M287R	probably damaging	Het
Vmn2r60	A	T	7: 42,194,908	H565L	probably damaging	Het
Zfp518a	G	A	19: 40,912,781	V385I	probably benign	Het
Zfp974	A	T	7: 27,912,051	M83K	probably benign	Het

Other mutations in Aldh1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Aldh1l2	APN	10	83522886	nonsense	probably null
IGL01154:Aldh1l2	APN	10	83520373	missense	probably damaging	1.00
IGL01301:Aldh1l2	APN	10	83522846	missense	probably damaging	1.00
IGL01354:Aldh1l2	APN	10	83527376	missense	probably damaging	1.00
IGL01364:Aldh1l2	APN	10	83492667	missense	probably damaging	1.00
IGL01445:Aldh1l2	APN	10	83520262	splice site	probably benign
IGL02179:Aldh1l2	APN	10	83522837	missense	probably benign	0.10
IGL02283:Aldh1l2	APN	10	83495895	missense	probably benign	0.00
IGL02507:Aldh1l2	APN	10	83492584	nonsense	probably null
IGL02727:Aldh1l2	APN	10	83506605	missense	probably damaging	1.00
IGL03353:Aldh1l2	APN	10	83522913	missense	probably benign	0.17
Hunger_winter	UTSW	10	83508013	critical splice donor site	probably null
Spartan	UTSW	10	83512306	missense	possibly damaging	0.93
ANU18:Aldh1l2	UTSW	10	83522846	missense	probably damaging	1.00
IGL02984:Aldh1l2	UTSW	10	83527335	missense	probably damaging	1.00
R0267:Aldh1l2	UTSW	10	83522687	splice site	probably benign
R0302:Aldh1l2	UTSW	10	83520365	missense	probably damaging	1.00
R0349:Aldh1l2	UTSW	10	83490614	missense	probably damaging	1.00
R0468:Aldh1l2	UTSW	10	83518678	missense	probably benign	0.01
R0745:Aldh1l2	UTSW	10	83518630	splice site	probably null
R0788:Aldh1l2	UTSW	10	83516164	missense	probably damaging	1.00
R1117:Aldh1l2	UTSW	10	83508623	missense	probably benign	0.01
R1241:Aldh1l2	UTSW	10	83496025	missense	probably benign	0.00
R1420:Aldh1l2	UTSW	10	83495935	missense	probably damaging	1.00
R1490:Aldh1l2	UTSW	10	83520370	missense	probably damaging	1.00
R1704:Aldh1l2	UTSW	10	83508660	missense	probably benign	0.10
R1729:Aldh1l2	UTSW	10	83508082	nonsense	probably null
R1893:Aldh1l2	UTSW	10	83492536	missense	probably damaging	1.00
R1897:Aldh1l2	UTSW	10	83502525	missense	probably damaging	1.00
R2047:Aldh1l2	UTSW	10	83506743	missense	probably damaging	1.00
R2290:Aldh1l2	UTSW	10	83527313	missense	probably damaging	1.00
R3054:Aldh1l2	UTSW	10	83502472	missense	probably benign	0.14
R3055:Aldh1l2	UTSW	10	83502472	missense	probably benign	0.14
R4097:Aldh1l2	UTSW	10	83512364	missense	probably damaging	0.98
R4162:Aldh1l2	UTSW	10	83506654	missense	possibly damaging	0.50
R4295:Aldh1l2	UTSW	10	83495920	missense	possibly damaging	0.62
R4296:Aldh1l2	UTSW	10	83522777	missense	probably benign	0.34
R4388:Aldh1l2	UTSW	10	83513622	missense	probably damaging	1.00
R4809:Aldh1l2	UTSW	10	83506632	missense	probably damaging	1.00
R5052:Aldh1l2	UTSW	10	83508692	missense	possibly damaging	0.92
R5421:Aldh1l2	UTSW	10	83527407	missense	probably damaging	1.00
R5491:Aldh1l2	UTSW	10	83522785	missense	probably benign	0.00
R5688:Aldh1l2	UTSW	10	83501925	missense	possibly damaging	0.93
R5726:Aldh1l2	UTSW	10	83512306	missense	possibly damaging	0.93
R5737:Aldh1l2	UTSW	10	83520325	missense	probably damaging	1.00
R5752:Aldh1l2	UTSW	10	83520380	missense	probably damaging	1.00
R6113:Aldh1l2	UTSW	10	83508134	nonsense	probably null
R6161:Aldh1l2	UTSW	10	83520338	missense	probably benign	0.00
R6166:Aldh1l2	UTSW	10	83493424	splice site	probably null
R6189:Aldh1l2	UTSW	10	83508013	critical splice donor site	probably null
R7357:Aldh1l2	UTSW	10	83514544	missense	possibly damaging	0.89
R7394:Aldh1l2	UTSW	10	83502457	missense	probably damaging	1.00
R7469:Aldh1l2	UTSW	10	83508105	missense	probably damaging	1.00
R7676:Aldh1l2	UTSW	10	83508111	missense	probably benign
R7848:Aldh1l2	UTSW	10	83499843	missense	probably benign	0.12
R7958:Aldh1l2	UTSW	10	83520338	missense	probably benign	0.00
R8311:Aldh1l2	UTSW	10	83490615	missense	probably damaging	1.00
R8477:Aldh1l2	UTSW	10	83501921	missense	probably damaging	1.00
R8730:Aldh1l2	UTSW	10	83506642	missense	possibly damaging	0.94
R8884:Aldh1l2	UTSW	10	83508677	missense	probably benign	0.02
R9117:Aldh1l2	UTSW	10	83506681	missense	probably benign	0.41
R9239:Aldh1l2	UTSW	10	83506632	missense	probably damaging	1.00
R9368:Aldh1l2	UTSW	10	83495952	nonsense	probably null
R9784:Aldh1l2	UTSW	10	83506750	critical splice acceptor site	probably null
Z1177:Aldh1l2	UTSW	10	83493480	missense	probably damaging	1.00
Z1177:Aldh1l2	UTSW	10	83534005	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTGCCATCTCAGAACTAAGG -3'
(R):5'- TCTGGACTAGTCTCTGGATTCTTAG -3'

Sequencing Primer
(F):5'- GGCCAAACCTGCTGCAAACTC -3'
(R):5'- CCTATACAGGGCTGGCATAC -3'

Posted On

2022-04-18